ClinVar Miner

List of variants in gene CDH23 reported by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.2587+35C>T rs186492861 0.00026
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NC_000010.11:g.71682535dup rs753886326
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)

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